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Background: Brugada syndrome (BrS) is a rare inherited cardiac arrhythmia associated with a high risk of sudden cardiac death (SCD) due to ventricular fibrillation (VF). BrS is characterized by coved-type ST-segment elevation in the right precordial leads (V1-V3). Mutations in SCN5A gene coding for the α-subunit of the NaV1.5 cardiac sodium channel are identified in 15–30% of BrS cases. Genetic testing of BrS patients generally involves sequencing of the protein-coding portions and flanking intronic regions of SCN5A. This excludes the 5′UTR and 3′UTR from the routine genetic testing. Methods: We here screened the coding sequence, the flanking intronic regions as well as the 5′ and 3′UTR regions of SCN5A gene and further five candidate genes (GPD1L, SCN1B, KCNE3, SCN4B, and MOG1) in a Tunisian family diagnosed with BrS. Results: A new SCN5A-Q1000K mutation was identified along with two common polymorphisms (H558R and D1819). Multiple genetic variants were identified on the SCN5A 3′UTR, one of which is predicted to create additional microRNA binding site for miR-1270. Additionally, we identified the hsa-miR-219a-rs107822. No relevant coding sequence variant was identified in the remaining studied candidate genes. Conclusions: The absence of genotype-phenotype concordance within all the identified genetic variants in this family gives extra evidences about the complexity of the disease and suggests that the occurrence and prognosis of BrS is most likely controlled by a combination of multiple genetic factors, rather than a single variant. Most SCN5A variants were localized in non-coding regions hypothesizing an impact on the miRNA-target complementarities. Keywords: SCN5A, Brugada syndrome, 3′UTR, microRNAs, Genotype-phenotype correlation

Background: Hyperglycemia on-admission is a powerful predictor of adverse events in patients presenting for ST-elevation myocardial infarction (STEMI). Aim: In this study, we sought to determine the prognostic value of hyperglycemia on-admission in Tunisian patients presenting with STEMI according to their diabetic status. Methods: Patients presenting to our center between January 1998 and September 2014 were enrolled. Hyperglycemia was defined as a glucose level ≥11 mmol/L. In-hospital prognosis was studied in diabetic and non-diabetic patients. The predictive value for mortality of glycemia level on-admission was assessed by mean of the area under receiver operating characteristic (ROC) curve calculation. Results: A total of 1289 patients were included. Mean age was 60.39 ± 12.8 years and 977 (77.3%) patients were male. Prevalence of diabetes mellitus was 70.2% and 15.2% in patients presenting with and without hyperglycemia, respectively (p

Objectives: Little is known about the risk profile and in-hospital prognosis of elderly patients presenting for ST-elevation myocardial infarction (STEMI) in Tunisia. We sought to determine in-hospital prognosis of elderly patients with STEMI in a Tunisian center. Methods: The study was carried out on a retrospective registry enrolling 1403 patients presenting with STEMI in a Tunisian center between January 1998 and January 2013. Patients ≥75 years old were considered elderly. Risk factors and in-hospital prognosis were compared between elderly and younger patients, and then predictive factors of in-hospital death were determined in elderly patients. Results: Out of the overall population, 211 (15%) were part of the elderly group. Compared to younger patients, elderly patients were more likely to have arterial hypertension but less likely to be smokers and obese. Thrombolysis was significantly less utilized in the elderly group (22.3% vs. 36.6% in the younger group, p